Mutagenetix > Incidental Mutation

Incidental Mutation 'R8028:Swt1'

628849

Institutional Source

Beutler Lab

Gene Symbol

Swt1

Ensembl Gene

ENSMUSG00000052748

Gene Name

SWT1 RNA endoribonuclease homolog (S. cerevisiae)

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

R8028 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

151367699-151428455 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 151384497 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 717 (T717K)

Ref Sequence

ENSEMBL: ENSMUSP00000067516 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064771] [ENSMUST00000111883]

AlphaFold

Q9DBQ9

Predicted Effect

probably benign
Transcript: ENSMUST00000064771
AA Change: T717K

PolyPhen 2 Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000067516
Gene: ENSMUSG00000052748
AA Change: T717K

Domain	Start	End	E-Value	Type
low complexity region	186	206	N/A	INTRINSIC
low complexity region	231	242	N/A	INTRINSIC
low complexity region	258	269	N/A	INTRINSIC
PINc	395	522	1.94e-9	SMART
low complexity region	783	793	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111883
AA Change: D667E

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107514
Gene: ENSMUSG00000052748
AA Change: D667E

Domain	Start	End	E-Value	Type
low complexity region	186	206	N/A	INTRINSIC
low complexity region	231	242	N/A	INTRINSIC
low complexity region	258	269	N/A	INTRINSIC
PINc	395	522	1.94e-9	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.0%
20x: 96.4%

Validation Efficiency

97% (35/36)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930548H24Rik	G	T	5: 31,487,922	V340F	possibly damaging	Het
Abca3	G	A	17: 24,407,697	R1500Q	probably benign	Het
Arhgap21	C	T	2: 20,880,405	V664M	probably benign	Het
Arhgef11	T	C	3: 87,735,552	V1464A	probably benign	Het
Ccdc158	G	T	5: 92,634,251	H836Q	probably damaging	Het
Clcn2	T	A	16: 20,708,762	Y584F	possibly damaging	Het
Csn1s2b	G	T	5: 87,819,092	M84I	probably benign	Het
Gatad1	T	C	5: 3,643,540	R210G	probably benign	Het
Gimap4	A	T	6: 48,690,750	R146S	probably damaging	Het
Gm20671	T	C	5: 32,795,614	N184S	possibly damaging	Het
Gpr179	T	C	11: 97,337,801	E1176G	probably damaging	Het
Hif1a	T	C	12: 73,942,027	S589P	probably benign	Het
Kcna7	T	A	7: 45,409,523	C411*	probably null	Het
Kel	C	T	6: 41,699,024	S244N	probably benign	Het
Lama2	A	T	10: 27,328,149	S498T	probably benign	Het
Map4	C	T	9: 110,068,744	T846I	probably damaging	Het
Myh8	T	C	11: 67,303,676	V1571A	possibly damaging	Het
Osbpl5	T	C	7: 143,715,735	T47A	probably benign	Het
Parl	T	C	16: 20,280,051	K353E	probably benign	Het
Pcdhb17	G	A	18: 37,487,449	S764N	probably benign	Het
Poglut1	A	G	16: 38,534,733	S244P	probably damaging	Het
Polq	C	T	16: 37,061,316	H1281Y	possibly damaging	Het
Rsf1	CG	CGACCGCGGGG	7: 97,579,908		probably benign	Het
Sardh	C	T	2: 27,230,455	M438I	probably damaging	Het
Slc14a1	T	C	18: 78,116,512	I55M	probably benign	Het
Slc22a12	T	A	19: 6,538,439	T350S	probably benign	Het
Srrt	CACCTTCTCCCCAGAACCCCACACCTTACCTG	C	5: 137,302,498		probably benign	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638		probably benign	Het
Stk38l	T	C	6: 146,773,383	F382S	probably damaging	Het
Tmem230	A	G	2: 132,244,065	L59P	probably benign	Het
Vmn2r98	A	T	17: 19,053,650	Y53F	probably benign	Het
Zscan12	C	T	13: 21,368,852	S282L	probably benign	Het

Other mutations in Swt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01109:Swt1	APN	1	151411139	missense	probably damaging	0.99
IGL01622:Swt1	APN	1	151411009	missense	probably benign	0.01
IGL01623:Swt1	APN	1	151411009	missense	probably benign	0.01
IGL01672:Swt1	APN	1	151394608	critical splice donor site	probably null
IGL01693:Swt1	APN	1	151422104	missense	probably benign	0.02
IGL02203:Swt1	APN	1	151370626	missense	probably benign	0.01
IGL03223:Swt1	APN	1	151379419	missense	possibly damaging	0.80
R0124:Swt1	UTSW	1	151391529	missense	probably damaging	1.00
R0496:Swt1	UTSW	1	151411270	missense	probably benign
R1037:Swt1	UTSW	1	151370569	splice site	probably benign
R1171:Swt1	UTSW	1	151405521	missense	probably damaging	1.00
R1270:Swt1	UTSW	1	151384391	missense	probably benign	0.00
R1883:Swt1	UTSW	1	151423533	nonsense	probably null
R2051:Swt1	UTSW	1	151372330	missense	probably damaging	1.00
R2110:Swt1	UTSW	1	151403885	missense	probably damaging	0.97
R2185:Swt1	UTSW	1	151384468	missense	probably damaging	1.00
R3688:Swt1	UTSW	1	151391489	missense	probably damaging	0.99
R3785:Swt1	UTSW	1	151379404	missense	probably benign	0.03
R4074:Swt1	UTSW	1	151394769	missense	probably benign
R4157:Swt1	UTSW	1	151403044	missense	probably damaging	1.00
R4660:Swt1	UTSW	1	151407597	missense	probably benign	0.18
R4761:Swt1	UTSW	1	151401102	missense	probably benign	0.43
R4972:Swt1	UTSW	1	151423542	missense	probably benign	0.22
R5141:Swt1	UTSW	1	151411394	missense	probably benign	0.04
R5227:Swt1	UTSW	1	151402976	nonsense	probably null
R5400:Swt1	UTSW	1	151412834	missense	probably benign	0.00
R5580:Swt1	UTSW	1	151384455	missense	probably benign	0.00
R5912:Swt1	UTSW	1	151411409	missense	probably damaging	1.00
R5945:Swt1	UTSW	1	151411170	missense	probably benign	0.01
R5973:Swt1	UTSW	1	151402949	splice site	probably null
R5979:Swt1	UTSW	1	151407588	missense	possibly damaging	0.94
R6242:Swt1	UTSW	1	151407614	missense	probably benign	0.41
R6283:Swt1	UTSW	1	151384333	missense	possibly damaging	0.78
R6951:Swt1	UTSW	1	151397268	missense	possibly damaging	0.88
R7009:Swt1	UTSW	1	151370630	missense	possibly damaging	0.94
R7165:Swt1	UTSW	1	151388677	missense	probably damaging	1.00
R7214:Swt1	UTSW	1	151394613	missense	possibly damaging	0.63
R7403:Swt1	UTSW	1	151388693	missense	probably benign	0.01
R7439:Swt1	UTSW	1	151411064	missense	probably benign	0.04
R7441:Swt1	UTSW	1	151411064	missense	probably benign	0.04
R7571:Swt1	UTSW	1	151394719	missense	probably benign	0.00
R8225:Swt1	UTSW	1	151422108	missense	possibly damaging	0.96
R9075:Swt1	UTSW	1	151370494	intron	probably benign
R9100:Swt1	UTSW	1	151423505	critical splice donor site	probably null
R9135:Swt1	UTSW	1	151368488	missense	possibly damaging	0.61
R9291:Swt1	UTSW	1	151410943	missense	probably damaging	0.96
R9292:Swt1	UTSW	1	151403036	missense	probably benign	0.00
R9368:Swt1	UTSW	1	151411016	missense	possibly damaging	0.90
X0062:Swt1	UTSW	1	151411439	missense	probably benign	0.43
Z1176:Swt1	UTSW	1	151388685	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GGCAGAGCTGAATGTCTTGG -3'
(R):5'- TACTATGGTAAGTAGGTCGAGCAG -3'

Sequencing Primer
(F):5'- GCTGAATGTCTTGGGAATTTAATACC -3'
(R):5'- CTGGTCTACAAAGTGAGCTCCAG -3'

Posted On

2020-06-30